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目的通过超声监测胎儿颈项透明层厚度(NT),探讨NT增厚与胎儿染色体异常的关系。方法选取2010年1月~2013年12月到该院经腹超声检查胎儿NT增厚的孕妇165例,行早期绒毛或中期羊水穿刺进行胎儿染色体核型分析。结果 165例NT值增厚标本中,染色体培养成功率100%。染色体核型异常31例,异常比例是18.79%。异常核型中:21三体16例,18三体4例,13三体2例,45,X 3例,47,XXX 2例,47,XX,+mar 1例,其他3例。结论胎儿颈项透明层增厚对染色体异常早期筛查具有重要意义,是孕早中期产前超声筛查的主要指征之一。
Objective To investigate the relationship between NT thickening and fetal chromosomal abnormalities by monitoring the thickness of the transparent layer of fetal neck (NT) by ultrasound. Methods Totally 165 pregnant women with fetal NT thickening were examined by transabdominal sonography from January 2010 to December 2013. The fetal karyotypes were analyzed by early or middle amniocentesis. Results 165 cases of NT value thickening specimens, the success rate of chromosome culture 100%. There were 31 cases of abnormal chromosome karyotype, the abnormal proportion was 18.79%. Abnormal karyotype: 21 trisomy 16, 18 trisomy 4, 13 trisomy 2, 45, X 3 cases, 47, XXX 2 cases, 47, XX, + mar 1 cases, the other 3 cases. Conclusions The thickening of the transparent layer of fetal neck is of great significance for the early screening of abnormal chromosomes. It is one of the main indications of prenatal ultrasound screening in early and middle stages of pregnancy.